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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:developmental and epileptic encephalopathy 102
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Accession:DOID:0070388 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by global developmental delay and severe to profoundly impaired intellectual development with inability to walk or speak that has_material_basis_in homozygous or compound heterozygous mutations in the SLC38A3 gene on chromosome 3p21. (DO)
Synonyms:exact_synonym: DEE102;   early infantile epileptic encephalopathy 102
 primary_id: MIM:619881
 alt_id: DOID:9004423


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developmental and epileptic encephalopathy 102 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc38a3 solute carrier family 38, member 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 102 OMIM
ClinVar		 PMID:25741868 PMID:31130284 PMID:34605855 NCBI chr 8:117,202,534...117,220,310
Ensembl chr 8:117,202,536...117,218,630 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      electroclinical syndrome 1524
        developmental and epileptic encephalopathy 1145
          developmental and epileptic encephalopathy 102 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            epilepsy 2950
              electroclinical syndrome 1524
                developmental and epileptic encephalopathy 1145
                  developmental and epileptic encephalopathy 102 1
paths to the root